Works matching AU Sidransky, Ellen

Results: 86

Characterization of Novel Human β-glucocerebrosidase Antibodies for Parkinson's Disease Research.

Published in:

Journal of Parkinson's Disease, 2024, v. 14, n. 1, p. 65, doi. 10.3233/JPD-230295

By:

Jong, Tiffany;
Gehrlein, Alexandra;
Sidransky, Ellen;
Jagasia, Ravi;
Chen, Yu

Publication type:

Article

Exploring genetic modifiers of Gaucher disease: The next horizon.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1739, doi. 10.1002/humu.23611

By:

Davidson, Brad A.;
Hassan, Shahzeb;
Garcia, Eric Joshua;
Tayebi, Nahid;
Sidransky, Ellen

Publication type:

Article

A mutation in SCARB2 is a modifier in gaucher disease.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1232, doi. 10.1002/humu.21566

By:

Velayati, Arash;
DePaolo, John;
Gupta, Nidhi;
Choi, Jae H.;
Moaven, Nima;
Westbroek, Wendy;
Goker-Alpan, Ozlem;
Goldin, Ehud;
Stubblefield, Barbara K.;
Kolodny, Edwin;
Tayebi, Nahid;
Sidransky, Ellen

Publication type:

Article

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene ( GBA).

Published in:

2008

By:

Hruska, Kathleen S.;
LaMarca, Mary E.;
Scott, C. Ronald;
Sidransky, Ellen

Publication type:

Other

Gaucher mutation N188S is associated with myoclonic epilepsy.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 271, doi. 10.1002/humu.20217

By:

Kowarz, Laurence;
Goker-Alpan, Ozlem;
Banerjee-Basu, Sharmila;
LaMarca, Mary E.;
Kinlaw, Leah;
Schiffmann, Raphael;
Baxevanis, Andreas D.;
Sidransky, Ellen

Publication type:

Article

Advancements in Viral Gene Therapy for Gaucher Disease.

Published in:

Genes, 2024, v. 15, n. 3, p. 364, doi. 10.3390/genes15030364

By:

Kulkarni, Akhil;
Chen, Tiffany;
Sidransky, Ellen;
Han, Tae-Un

Publication type:

Article

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 505, doi. 10.1038/sj.ejhg.5200315

By:

Stone, Deborah L;
Diggelen, Otto P van;
Klerk, Johannis BC de;
Gaillard, Johannes LJ;
Niermeijer, Martinus F;
Willemsen, Rob;
Tayebi, Nahid;
Sidransky, Ellen

Publication type:

Article

Targeting protein clearance pathways in GBA1-associated Parkinson disease.

Published in:

2022

By:

Chen, Chase;
Hertz, Ellen;
Chen, Yu;
Sidransky, Ellen

Publication type:

Editorial

Glucocerebrosidase as a therapeutic target for Parkinson's disease.

Published in:

Expert Opinion on Therapeutic Targets, 2020, v. 24, n. 4, p. 287, doi. 10.1080/14728222.2020.1733970

By:

Chen, Yu;
Sam, Richard;
Sharma, Pankaj;
Chen, Lu;
Do, Jenny;
Sidransky, Ellen

Publication type:

Article

PERINATAL LETHAL GAUCHER DISEASE: A DISTINCT PHENOTYPE ALONG THE NEURONOPATHIC CONTINUUM.

Published in:

Fetal & Pediatric Pathology, 2005, v. 24, n. 4/5, p. 205, doi. 10.1080/15227950500405296

By:

Eblan, Michael J.;
Goker-Alpan, Ozlem;
Sidransky, Ellen

Publication type:

Article

The enigmatic link between glucocerebrosidase and parkinsonism: New pieces to the puzzle.

Published in:

Movement Disorders, 2011, v. 26, n. 10, p. 1803, doi. 10.1002/mds.23923

By:

Lopez, Grisel;
Sidransky, Ellen

Publication type:

Article

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.

Published in:

Movement Disorders, 2009, v. 24, n. 11, p. 1571, doi. 10.1002/mds.22538

By:

DePaolo, John;
Goker-Alpan, Ozlem;
Samaddar, Ted;
Lopez, Grisel;
Sidransky, Ellen

Publication type:

Article

Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

Published in:

Movement Disorders, 2006, v. 21, n. 2, p. 282, doi. 10.1002/mds.20766

By:

Eblan, Michael J.;
Nguyen, Joann;
Ziegler, Shira G.;
Lwin, Alicia;
Hanson, Melissa;
Gallardo, Marisol;
Weiser, Roberto;
De Lucca, Marisel;
Singleton, Andrew;
Sidransky, Ellen

Publication type:

Article

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders.

Published in:

Acta Neuropathologica, 2010, v. 120, n. 5, p. 641, doi. 10.1007/s00401-010-0741-7

By:

Goker-Alpan, Ozlem;
Stubblefield, Barbara;
Giasson, Benoit;
Sidransky, Ellen

Publication type:

Article

Neither alpha-synuclein fibril strain nor host murine genotype influences seeding efficacy.

Published in:

NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00679-1

By:

Walton, Sara;
Fenyi, Alexis;
Tittle, Tyler;
Sidransky, Ellen;
Pal, Gian;
Choi, Solji;
Melki, Ronald;
Killinger, Bryan A.;
Kordower, Jeffrey H.

Publication type:

Article

High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant Glucocerebrosidase.

Published in:

PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029861

By:

Goldin, Ehud;
Wei Zheng;
Motabar, Omid;
Southall, Noel;
Jae Hyuk Choi;
Marugan, Juan;
Austin, Christopher P.;
Sidransky, Ellen

Publication type:

Article

Transvaginal chorionic villus sampling.

Published in:

1990

By:

Sidransky, Ellen;
Black, Susan H.;
Soenksen, Dawn M.;
Jones, Shirley L.;
Dorfmann, Andrew D.;
Schulman, Joseph D.;
Sidransky, E;
Black, S H;
Soenksen, D M;
Jones, S L;
Dorfmann, A D;
Schulman, J D

Publication type:

journal article

Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.

Published in:

Stem Cells Translational Medicine, 2015, v. 4, n. 8, p. 878, doi. 10.5966/sctm.2014-0213

By:

SGAMBATO, JUDI A.;
PARK, TEA SOON;
MILLER, DIANA;
PANICKER, LEELAMMA M.;
SIDRANSKY, ELLEN;
YU LUN;
AWAD, OLA;
BENTZEN, SØREN M.;
ZAMBIDIS, ELIAS T.;
FELDMAN, RICARDO A.

Publication type:

Article

A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 4, p. 220, doi. 10.1007/s10038-004-0134-7

By:

LaMarca, Mary E.;
Goldstein, Mona;
Tayebi, Nahid;
Arcos-Burgos, Mauricio;
Martin, Brian M.;
Sidransky, Ellen

Publication type:

Article

Diagnosing Gaucher disease.

Published in:

Clinical Pediatrics, 1995, v. 34, n. 7, p. 365, doi. 10.1177/000992289503400705

By:

Sidransky, Ellen;
Tayebi, Nahid

Publication type:

Article

Obstacles to Early Diagnosis of Gaucher Disease.

Published in:

Therapeutics & Clinical Risk Management, 2025, v. 21, p. 93, doi. 10.2147/TCRM.S388266

By:

Nishimura, Samantha;
Ma, Charis;
Sidransky, Ellen;
Ryan, Emory

Publication type:

Article

Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease.

Published in:

2006

By:

Holleran, W. M.;
Ziegler, S. G.;
Goker-Alpan, O.;
Eblan, M. J.;
Elias, P. M.;
Schiffmann, R.;
Sidransky, Ellen

Publication type:

Letter

New glucocerebrosidase antibodies can advance research in the field of neurodegenerative disorders.

Published in:

Neural Regeneration Research, 2025, v. 20, n. 4, p. 1085, doi. 10.4103/NRR.NRR-D-24-00131

By:

Ma, Charis;
Rytel, Krystyna;
Yu Chen;
Sidransky, Ellen

Publication type:

Article

Technological advances expand our knowledge of lysosomal dysfunction in neurodegeneration.

Published in:

Neural Regeneration Research, 2023, v. 18, n. 3, p. 539, doi. 10.4103/1673-5374.346490

By:

Chen, Chase;
Yu Chen;
Sidransky, Ellen

Publication type:

Article

Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63630

By:

Ryan, Emory;
Nishimura, Samantha;
Lopez, Grisel;
Tayebi, Nahid;
Sidransky, Ellen

Publication type:

Article

Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2647, doi. 10.1002/ajmg.a.63345

By:

Ryan, Emory;
Tayebi, Nahid;
D'Souza, Andrea;
Lopez, Grisel;
Lichtenberg, Jens;
Sidransky, Ellen

Publication type:

Article

The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1783, doi. 10.1002/ajmg.a.63202

By:

Gleason, Adenrele M.;
D'Souza, Andrea;
Ryan, Emory;
Grochowsky, Angela R.;
Carter, Camille R.;
Goker‐Alpan, Ozlem;
Lopez, Grisel;
Tayebi, Nahid;
Sidransky, Ellen

Publication type:

Article

White vitreous opacities in five patients with Gaucher disease type 3.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 808, doi. 10.1002/ajmg.a.61479

By:

Seehra, Gurpreet K.;
Eghbali, Areian;
Sidransky, Ellen;
FitzGibbon, Edmond

Publication type:

Article

Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3211, doi. 10.1002/ajmg.a.38487

By:

Hagege, Ermias;
Grey, Richard J.;
Lopez, Grisel;
Roshan Lal, Tamanna;
Sidransky, Ellen;
Tayebi, Nahid

Publication type:

Article

Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.

Published in:

Expert Opinion on Pharmacotherapy, 2021, v. 22, n. 11, p. 1489, doi. 10.1080/14656566.2021.1902989

By:

Sam, Richard;
Ryan, Emory;
Daykin, Emily;
Sidransky, Ellen

Publication type:

Article

The Role of Glucocerebrosidase Mutations in Parkinson Disease and Lewy Body Disorders.

Published in:

Current Neurology & Neuroscience Reports, 2010, v. 10, n. 3, p. 190, doi. 10.1007/s11910-010-0102-x

By:

Velayati, Arash;
Yu, W.;
Sidransky, Ellen

Publication type:

Article

Glucocerebrosidase is shaking up the synucleinopathies.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1304, doi. 10.1093/brain/awu002

By:

Siebert, Marina;
Sidransky, Ellen;
Westbroek, Wendy

Publication type:

Article

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 3, p. 834, doi. 10.1093/brain/awt367

By:

Murphy, Karen E.;
Gysbers, Amanda M.;
Abbott, Sarah K.;
Tayebi, Nahid;
Kim, Woojin S.;
Sidransky, Ellen;
Cooper, Antony;
Garner, Brett;
Halliday, Glenda M.

Publication type:

Article

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease.

Published in:

2014

By:

Murphy, Karen E;
Gysbers, Amanda M;
Abbott, Sarah K;
Tayebi, Nahid;
Kim, Woojin S;
Sidransky, Ellen;
Cooper, Antony;
Garner, Brett;
Halliday, Glenda M

Publication type:

journal article

The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. 2440, doi. 10.1093/brain/aws174

By:

Goker-Alpan, Ozlem;
Masdeu, Joseph C.;
Kohn, Philip D.;
Ianni, Angela;
Lopez, Grisel;
Groden, Catherine;
Chapman, Molly C.;
Cropp, Brett;
Eisenberg, Daniel P.;
Maniwang, Emerson D.;
Davis, Joie;
Wiggs, Edythe;
Sidransky, Ellen;
Berman, Karen F.

Publication type:

Article

Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.

Published in:

Journal of Neuroscience, 2016, v. 36, n. 29, p. 7693, doi. 10.1523/JNEUROSCI.0628-16.2016

By:

Mazzulli, Joseph R.;
Zunke, Friederike;
Tsunemi, Taiji;
Toker, Nicholas J.;
Jeon, Sohee;
Burbulla, Lena F.;
Patnaik, Samarjit;
Sidransky, Ellen;
Marugan, Juan J.;
Sue, Carolyn M.;
Krainc, Dimitri

Publication type:

Article

A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.

Published in:

Journal of Neuroscience, 2016, v. 38, n. 28, p. 7441, doi. 10.1523/JNEUROSCI.0636-16.2016

By:

Aflaki, Elma;
Borger, Daniel K.;
Moaven, Nima;
Stubblefield, Barbara K.;
Rogers, Steven A.;
Patnaik, Samarjit;
Schoenen, Frank J.;
Westbroek, Wendy;
Wei Zheng;
Sullivan, Patricia;
Fujiwara, Hideji;
Sidhu, Rohini;
Khaliq, Zayd M.;
Fopez, Grisel J.;
Goldstein, David S.;
Ory, Daniel S.;
Marugan, Juan;
Sidransky, Ellen

Publication type:

Article

Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations.

Published in:

2020

By:

Lopez, Grisel;
Eisenberg, Daniel P.;
Gregory, Michael D.;
Ianni, Angela M.;
Grogans, Shannon E.;
Masdeu, Joseph C.;
Kim, Jenny;
Groden, Catherine;
Sidransky, Ellen;
Berman, Karen F.

Publication type:

journal article

Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease.

Published in:

2011

By:

Oppenheim, Ian;
Canon, Astrid;
Barcenas, William;
Groden, Catherine;
Goker-Alpan, Ozlem;
Resnik, Charles;
Sidransky, Ellen;
Oppenheim, Ian M;
Canon, Astrid Medina;
Resnik, Charles S

Publication type:

journal article

Is Gauchian genotyping of GBA1 variants reliable?

Published in:

Communications Biology, 2025, p. 1, doi. 10.1038/s42003-025-08059-y

By:

Tayebi, Nahid;
Lichtenberg, Jens;
Hertz, Ellen;
Sidransky, Ellen

Publication type:

Article

Is Gauchian genotyping of GBA1 variants reliable?

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08059-y

By:

Tayebi, Nahid;
Lichtenberg, Jens;
Hertz, Ellen;
Sidransky, Ellen

Publication type:

Article

Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 400, doi. 10.1007/s004390000380

By:

Tayebi, Nahid;
Park, Joseph;
Madike, Victor;
Sidransky, Ellen

Publication type:

Article

Hypernatremic Dehydration in Children with Severe Psychomotor Retardation.

Published in:

Clinical Pediatrics, 1985, v. 24, n. 8, p. 440, doi. 10.1177/000992288502400804

By:

Listernick, Robert;
Sidransky, Ellen

Publication type:

Article

Clinical heterogeneity among patients with Gaucher's disease.

Published in:

JAMA: Journal of the American Medical Association, 1993, v. 269, n. 9, p. 1154, doi. 10.1001/jama.1993.03500090090038

By:

Sidransky, Ellen;
Ginns, Edward I.

Publication type:

Article

Selective Extraction and Effective Separation of Galactosylsphingosine (Psychosine) and Glucosylsphingosine from Other Glycosphingolipids in Pathological Tissue Samples.

Published in:

Neurochemical Research, 2011, v. 36, n. 9, p. 1612, doi. 10.1007/s11064-010-0348-3

By:

Li, Yu-Teh;
Li, Su-Chen;
Buck, Wayne;
Haskins, Mark;
Wu, Sz-Wei;
Khoo, Kay-Hooi;
Sidransky, Ellen;
Bunnell, Bruce

Publication type:

Article

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-151

By:

Yildiz, Yildiz;
Hoffmann, Per;
Dahl, Stefan vom;
Breiden, Bernadette;
Sandhoff, Roger;
Niederau, Claus;
Horwitz, Mia;
Karlsson, Stefan;
Filocamo, Mirella;
Elstein, Deborah;
Beck, Michael;
Sandhoff, Konrad;
Mengel, Eugen;
Gonzalez, Maria C.;
Nöthen, Markus M.;
Sidransky, Ellen;
Zimran, Ari;
Mattheisen, Manuel

Publication type:

Article

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.

Published in:

2013

By:

Yildiz, Yildiz;
Hoffmann, Per;
Vom Dahl, Stefan;
Breiden, Bernadette;
Sandhoff, Roger;
Niederau, Claus;
Horwitz, Mia;
Karlsson, Stefan;
Filocamo, Mirella;
Elstein, Deborah;
Beck, Michael;
Sandhoff, Konrad;
Mengel, Eugen;
Gonzalez, Maria C;
Nöthen, Markus M;
Sidransky, Ellen;
Zimran, Ari;
Mattheisen, Manuel

Publication type:

journal article

Gaucher Disease and the Synucleinopathies.

Published in:

Journal of Biomedicine & Biotechnology, 2006, p. 1, doi. 10.1155/JBB/2006/78549

By:

Hruska, Kathleen S.;
Goker-Alpan, Ozlem;
Sidransky, Ellen

Publication type:

Article

The definition of neuronopathic Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1056, doi. 10.1002/jimd.12235

By:

Schiffmann, Raphael;
Sevigny, Jeff;
Rolfs, Arndt;
Davies, Elin Haf;
Goker‐Alpan, Ozlem;
Abdelwahab, Magy;
Vellodi, Ashok;
Mengel, Eugen;
Lukina, Elena;
Yoo, Han‐Wook;
Collin‐Histed, Tanya;
Narita, Aya;
Dinur, Tama;
Revel‐Vilk, Shoshana;
Arkadir, David;
Szer, Jeff;
Wajnrajch, Michael;
Ramaswami, Uma;
Sidransky, Ellen;
Donald, Aimee

Publication type:

Article

Pathologic fractures may develop in gaucher patients receiving enzyme replacement therapy.

Published in:

American Journal of Hematology, 1994, v. 47, n. 3, p. 247, doi. 10.1002/ajh.2830470325

By:

Sidransky, Ellen;
Ginns, Edward I.;
Westman, Judith A.;
Ehmann, W. Christopher

Publication type:

Article